UniProtKB/Swiss-Prot O95704: Variant p.Cys231Arg

Amyloid-beta A4 precursor protein-binding family B member 3
Gene: APBB3
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Variant information Variant position:

231 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Cysteine (C) to Arginine (R) at position 231 (C231R, p.Cys231Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs250430 [ dbSNP | Ensembl ]

Sequence information Variant position:

231 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

486 The length of the canonical sequence.
Location on the sequence:

RDFAFVASDKDSCMLKCHVF C CDVPAKAIASALHGLCAQIL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RDFAFVASDKDSCMLKCHVFCCDVPAKAIASALHGLCAQIL

Mouse                         RDFAFVAGDKDSCMLKCHVFHCDVPAKAIASALQGLCAQIL

Rat                           RDFAFVAGDKDSCMLKCHVFRCDVPAKAIASRLQGLCAQIL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 486	Amyloid-beta A4 precursor protein-binding family B member 3
Domain	113 – 280	PID 1
Alternative sequence	210 – 245	DRDFAFVASDKDSCMLKCHVFCCDVPAKAIASALHG -> SSDVDPGLLPLPGPALVGEGGPSSAGTVWGESERLG. In isoform I-245.
Alternative sequence	215 – 486	Missing. In isoform I-214.

Literature citations
Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein.
Tanahashi H.;
Neurosci. Lett. 261:143-146(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I AND II); INTERACTION WITH APP; APLP1 AND APLP2; VARIANT ARG-231; Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein.
Tanahashi H.; Tabira T.;
Biochem. Biophys. Res. Commun. 258:385-389(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-231; Molecular cloning of the full-length cDNA and novel splicing isoforms of Fe65L2 gene.
Mao Y.M.; Xie Y.; Sun Z.; Chen X.M.; Ying K.; Dai J.L.; Lin S.; Wu C.Q.; Li Y.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I; II; III AND IV); VARIANT ARG-231; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II); VARIANT ARG-231; The DNA sequence and comparative analysis of human chromosome 5.
Schmutz J.; Martin J.; Terry A.; Couronne O.; Grimwood J.; Lowry S.; Gordon L.A.; Scott D.; Xie G.; Huang W.; Hellsten U.; Tran-Gyamfi M.; She X.; Prabhakar S.; Aerts A.; Altherr M.; Bajorek E.; Black S.; Branscomb E.; Caoile C.; Challacombe J.F.; Chan Y.M.; Denys M.; Detter J.C.; Escobar J.; Flowers D.; Fotopulos D.; Glavina T.; Gomez M.; Gonzales E.; Goodstein D.; Grigoriev I.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Israni S.; Jett J.; Kadner K.; Kimball H.; Kobayashi A.; Lopez F.; Lou Y.; Martinez D.; Medina C.; Morgan J.; Nandkeshwar R.; Noonan J.P.; Pitluck S.; Pollard M.; Predki P.; Priest J.; Ramirez L.; Retterer J.; Rodriguez A.; Rogers S.; Salamov A.; Salazar A.; Thayer N.; Tice H.; Tsai M.; Ustaszewska A.; Vo N.; Wheeler J.; Wu K.; Yang J.; Dickson M.; Cheng J.-F.; Eichler E.E.; Olsen A.; Pennacchio L.A.; Rokhsar D.S.; Richardson P.; Lucas S.M.; Myers R.M.; Rubin E.M.;
Nature 431:268-274(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ARG-231;

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